University of NSW researchers are gaining international recognition by using open data to prove why preventing cancer means taking care of your body.
On 14 April the study ‘Differential DNA repair underlies mutation hotspots at active promoters in cancer genomes’, first supported by the Cancer Institute NSW in 2013, was published in Nature magazine.
Evidence has long shown cancer risk can be increased by lifestyle factors like tobacco smoking and over exposure to ultraviolet radiation, but this new research is going to further our understanding of why cancers occur.
Speaking about his work, lead researcher Dr Jason Wong puts the findings simply: “We can’t assume our cells will fix everything perfectly.”
Dr Wong’s research was first recognised and supported by the Cancer Institute NSW’s Big Data, Big Impact award in 2013, giving him an opportunity to investigate what he calls “an unexplored question.”
The research highlights that while our cells are generally very good at protecting our genome from damage, this isn’t always the case.
It finds some regions that aren’t well repaired are important in controlling cell identity, and mutations in these regions have the potential to cause cancer.
Dr Wong hopes his research reinforces the importance of cancer prevention strategies to reduce everybody’s risk of the disease.
“A whole new wave of research…”
Nikola Bowden is a DNA repair group leader at the University of Newcastle and Hunter Medical Research Institute – she says Dr Wong’s research will start a whole new wave of research in cancer genomics.
“We have known for sometime that certain cancer types have a lot more mutations than others, but the biological significance of this was not really known,” she says.
“Dr Wong’s team have discovered mutations tend to be in the area of the genome that controls if a gene is expressed – the resulting protein is normal but could be out of control or not expressed at all because of the mutations.
“This is really exciting as it is very different to having mutations that produce abnormal proteins.
“The discovery will have huge implications particularly for melanoma and lung cancer research, as we now know that the promoters that turn on or turn off proteins contain more mutations than we thought,” says Dr Bowden.
The eventual findings and ultimate recognition isn’t something Dr Wong could have predicted.
“Thinking about whether what we had initially set out to discover would get published in a journal like Nature, I thought – no way, we’d have to be lucky,” he says.
Using big data for big results
The team’s discoveries were made entirely through publically available data, a model Dr Wong sees as ideal in continuing to progress and improve cancer research.
“I think our work is a good example of what can be achieved through data sharing,” Dr Wong says.
“Access to large quantities of public data gives us the statistical power to identify associations that may not be as obvious in smaller datasets.”
Dr Wong says the data currently available in the public domain however is still only a small fraction of all biomedical data generated in cancer research.
“With increasing awareness of what can be achieved with open source data, I hope that more researchers will be willing to make their publicly available.”
Also involved in the study were: Dilmi Perera and Rebecca Poulos (joint-first authors), Anushi Shah (research assistant), and Dominik Beck and John Pimanda (collaborators).